Allele Registry

Canonical Allele Identifier: PA2829972040

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000538015

RCV001049757

RCV001779000

RCV002431636

RCV003999342

ClinVar Variation:

468187

846454

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Met276Ile	CA394313332 NM_021055.3:c.828G>A CA394313336 NM_021055.3:c.828G>C CA394313340 NM_021055.3:c.828G>T